Otoferlin

Alternative Names

  • OTOF
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OMIM Number

603681

NCBI Gene ID

9381

Uniprot ID

Q9HC10

Length

101,496 bases

No. of Exons

48

No. of isoforms

5

Protein Name

Otoferlin

Molecular Mass

226753 Da

Amino Acid Count

1997

Genomic Location

chr2:26,457,203-26,558,698

Gene Map Locus
2p23-p22

Description

Using a positional cloning strategy combined to a candidate gene approach, the otoferlin gene (OTOF) has been identified, as responsible for neurosensory nonsyndromic recessive deafness, DFNB9. The OTOF gene codes for the protein: otoferlin, which is present in the inner ear and brain. The exact function of otoferlin is not yet known, but it appears to be essential for normal hearing. 

Epidemiology in the Arab World

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